Acrofacial dysostosis syndromes

Philippe Jeanty, MD, PhD & Sandra R Silva, MD

Definition: Nager syndrome consist of limb anomalies including absence of the radius, synostosis of the radius and ulna, hypoplasia or absence of the thumbs as well as severe micrognathia and malar hypoplasia[1],[2].

Differential diagnosis: Other disorders with micrognathia and distal ectromelia such as trisomy 18.

Prognosis: Lethal from lung hypoplasia due to severe mandibular hypoplasia.

Management: Termination of pregnancy can be offeredbefore viability. Standard prenatal care is not altered when continuation the pregnancy is opted for. Confirmation of diagnosis after birth is important for genetic counseling.